PerkinElmer, Inc., a global leader in innovation for a healthier world, today announced the availability of ultra-fast genome-wide sequencing (urWGS) through PerkinElmer Genomics. This addition to the company’s portfolio of genome-wide sequencing proposals (WGS) provides physicians with comprehensive, meaningful results in five days to help inform clinical management and improve outcomes for critically ill patients in neonatal and pediatric intensive care units ( NICUs and PICUs). Because many genetic diseases are chronic and progressive in nature, reducing the time to make an accurate diagnosis can eliminate unnecessary procedures, initiate treatment, and improve clinical outcomes.

The PerkinElmer Genomics urWGS proposal uses a dried blood sample to provide a phenotypic assay with an average coverage of 40 times the patient’s genome. Studies show that up to 15 percent of pathogenic genetic variants can be found in non-coding regions of the genome that WGS helps identify. In addition to mitochondrial genome analysis, CNV detection – which identifies deletions, duplications and other events at the gene and chromosomal level, SMA and screening for recurrent disorders – PerkinElmer urWGS’s proposal includes StepOne® Comprehensive biochemical profile. StepOne offers screening for more than 70 inherited conditions and disorders, including the Recommended Universal Newborn Screening Panel (RUSP) and many others that may not be in state-defined programs.

Increasingly, whole-genome sequencing is proving its value as a first-level clinical trial for many patients, especially in NICU and PICU, where timely clinical decisions are crucial for timely intervention. By providing services like this urWGS combined with StepOne, available to more hospital systems and physicians, our hope is that we can help shorten the diagnostic odyssey for more newborns and their families. With PerkinElmer’s global leadership in neonatal screening using dried blood spot technology, we will continue to improve urWGS with further analysis.

Madhuri Hegde, PhD, FACMG, SVP and Chief Research Officer, Global Lab Services, PerkinElmer Inc.

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As a result of informing and initiating changes in clinical management, rapid WGS tests have been shown to reduce the cost of healthcare for patients in NICUs and PICUs. Additional benefits of these testing services include the elimination of unnecessary tests and procedures and reduced length of hospital stay.

PerkinElmer Genomics is among the first commercial clinical laboratories to receive New York State approval for the next-generation WGS-based sequencing method using saliva, whole blood and dried blood samples. In December 2021, the company also launched a proposal for prenatal WGS testing, further expanding its capabilities as a leader in this space.

The PerkinElmer Genomics urWGS test is only available as a proband test or TRIO test. For more information on both tests, ordering instructions, and a summary of all PerkinElmer Genomics WGS offerings, visit: web page here.

The story first appeared in News Medical

PerkinElmer expands genomic testing services with ultrarapid whole genome sequencing

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